Zhao, Huiquan <br/><br/>
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jan 2003 
 - 52-6 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4825 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.10029  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Child, Preschool<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Female<br/>Gaucher Disease--enzymology<br/>Glucosylceramidase--deficiency<br/>Haplotypes<br/>Humans<br/>Male<br/>Middle Aged<br/>Mutation<br/>Mutation, Missense<br/>Phenotype